title: Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1.
authors.affiliation: First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Horiuchi
authors.forename: N
authors.initials: N
authors.lastname: Hatta
authors.forename: I
authors.initials: I
authors.lastname: Watanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: M R
authors.initials: MR
authors.lastname: Wallace
authors.forename: Y
authors.initials: Y
authors.lastname: Shirakata
authors.forename: H
authors.initials: H
authors.lastname: Ohtsuka
authors.forename: S
authors.initials: S
authors.lastname: Fujita
mesh_terms: D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D002461:Cell Line, Transformed; D003062:Codon; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D003062:Codon; D025542:Neurofibromin 1; D011506:Proteins; D004247:DNA; D001120:Arginine